Session # 211

Molecular diagnosis for neurodevelopmental disorders-an overview of multi-gene panels and whole exome sequencing

  • MGP are useful to provide low cost, quick testing that avoids incidental findings.
  • Comprehensive array and MLPA tests included in MGP help to detected gross indels in targeted genes.
  • DES testing has the advantage of routinely identifying de novo alterations, novel genetic etiologies and classifying VUS by segregation information.
  • MGP that include parental testing for co-segregation analysis can help to improve the diagnostic yield and reduce

  • Authors: Jing Wang; Zöe Powis; Amal Yussuf; Jade Tinker; Heather Newman; Tiffiney Carter; Erica Smith; Rhonda Lassiter; Shoji Ichikawa; Negar Ghahramani; Sherry Dadgar; Brigette Tippin Davis; Amanda Bergner
  • Conference: American Academy of Neurology (AAN)
  • Date: Tuesday, Apr 25, 2017 5:30pm - 7:00pm

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